The genetics of kidney stone disease and nephrocalcinosis
P Singh, PC Harris, DJ Sas, JC Lieske - Nature Reviews Nephrology, 2022 - nature.com
Kidney stones (also known as urinary stones or nephrolithiasis) are highly prevalent,
affecting approximately 10% of adults worldwide, and the incidence of stone disease is …
affecting approximately 10% of adults worldwide, and the incidence of stone disease is …
Genetics of kidney stone disease
SA Howles, RV Thakker - Nature Reviews Urology, 2020 - nature.com
Kidney stone disease (nephrolithiasis) is a common problem that can be associated with
alterations in urinary solute composition including hypercalciuria. Studies suggest that the …
alterations in urinary solute composition including hypercalciuria. Studies suggest that the …
Secretory cells dominate airway CFTR expression and function in human airway superficial epithelia
Rationale: Identification of the specific cell types expressing CFTR (cystic fibrosis [CF]
transmembrane conductance regulator) is required for precision medicine therapies for CF …
transmembrane conductance regulator) is required for precision medicine therapies for CF …
Gene therapy for cystic fibrosis: Challenges and prospects
H Sui, X Xu, Y Su, Z Gong, M Yao, X Liu… - Frontiers in …, 2022 - frontiersin.org
Cystic fibrosis (CF) is a life-threatening autosomal-recessive disease caused by mutations in
a single gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). CF …
a single gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). CF …
The pathophysiology of distal renal tubular acidosis
The kidneys have a central role in the control of acid–base homeostasis owing to
bicarbonate reabsorption and production of ammonia and ammonium in the proximal tubule …
bicarbonate reabsorption and production of ammonia and ammonium in the proximal tubule …
Treatment and long-term outcome in primary distal renal tubular acidosis
Background Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to
gather data on treatment and long-term outcome. Methods We contacted paediatric and …
gather data on treatment and long-term outcome. Methods We contacted paediatric and …
Cystic fibrosis and the cells of the airway epithelium: what are ionocytes and what do they do?
Cystic fibrosis (CF) is caused by defects in an anion channel, the cystic fibrosis
transmembrane conductance regulator (CFTR). Recently, a new airway epithelial cell type …
transmembrane conductance regulator (CFTR). Recently, a new airway epithelial cell type …
Inherited tubulopathies of the kidney: insights from genetics
ML Downie, SCL Garcia, R Kleta… - Clinical Journal of the …, 2021 - journals.lww.com
The kidney tubules provide homeostasis by maintaining the external milieu that is critical for
proper cellular function. Without homeostasis, there would be no heartbeat, no muscle …
proper cellular function. Without homeostasis, there would be no heartbeat, no muscle …
Mechanistic insights into the primary and secondary alterations of renal ion and water transport in the distal nephron
N Tabibzadeh, G Crambert - Journal of Internal Medicine, 2023 - Wiley Online Library
The kidneys, by equilibrating the outputs to the inputs, are essential for maintaining the
constant volume, pH, and electrolyte composition of the internal milieu. Inability to do so …
constant volume, pH, and electrolyte composition of the internal milieu. Inability to do so …
Distal renal tubular acidosis: ERKNet/ESPN clinical practice points
F Trepiccione, SB Walsh, G Ariceta… - Nephrology dialysis …, 2021 - academic.oup.com
Distal renal tubular acidosis (dRTA) is characterized by an impaired ability of the distal
tubule to excrete acid, leading to metabolic acidosis. Associated complications include bone …
tubule to excrete acid, leading to metabolic acidosis. Associated complications include bone …